LOCALIZED BETA-GALACTOSIDASE DEFICIENCY - OCCURRENCE IN CEREBELLAR ATAXIA WITH MYOCLONUS EPILEPSY AND MACULAR CHERRY-RED SPOT - NEW VARIANT OF GM1-GANGLIOSIDOSIS

被引：54

作者：

YAMAMOTO, A

ADACHI, S

KAWAMURA, S

TAKAHASHI, M

KITANI, T

OHTORI, T

SHINJI, Y

NISHIKAW.M

机构：

[1] OSAKA UNIV, MED SCH, DEPT INTERN MED 2, OSAKA, JAPAN

[2] OSAKA UNIV, MED SCH, DEPT OPHTHALMOL, OSAKA, JAPAN

来源：

ARCHIVES OF INTERNAL MEDICINE | 1974年 / 134卷 / 04期

关键词：

D O I：

10.1001/archinte.134.4.627

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：627 / 634

页数：8

共 44 条

[1]

BERNHEIMER H, 1968, Wiener Klinische Wochenschrift, V80, P163

[2] CHEMICAL AND ENZYMIC STUDIES OF A FAMILY WITH SKELETAL ABNORMALITIES ASSOCIATED WITH MENTAL RETARDATION [J].

CLAUSEN, J ;

DYGGVE, HV ;

MELCHIOR, JC .

CLINICA CHIMICA ACTA, 1970, 29 (02) :197-&

[3] GM1-GANGLIOSIDE ACCUMULATION AND BETA-GALACTOSIDASE DEFICIENCY IN A CASE OF GM1-GANGLIOSIDOSIS (LANDING DISEASE) [J].

DACREMONT, G ;

KINT, JA .

CLINICA CHIMICA ACTA, 1968, 21 (03) :421-+

[4] LATE INFANTILE SYSTEMIC LIPIDOSIS - MAJOR MONOSIALOGANGLIOSIDOSIS DELINEATION OF 2 TYPES [J].

DERRY, DM ;

FAWCETT, JS ;

ANDERMANN, F ;

WOLFE, LS .

NEUROLOGY, 1968, 18 (04) :340-+

[5]

DISCHE Z, 1947, J BIOL CHEM, V171, P725

[6] SEPARATION ON DOWEX-50 ION EXCHANGE RESIN OF GLUCOSAMINE AND GALACTOSAMINE AND THEIR QUANTITATIVE DETERMINATION [J].

GARDELL, S .

ACTA CHEMICA SCANDINAVICA, 1953, 7 (01) :207-215

[7] ISOLATION OF BETA-GALACTOSIDASE AND BETA-GLUCOSIDASE FROM BRAIN [J].

GATT, S ;

RAPPORT, MM .

BIOCHIMICA ET BIOPHYSICA ACTA, 1966, 113 (03) :567-&

[8] MACULAR CHERRY-RED SPOT, CORNEAL CLOUDING, AND BETA-GALACTOSIDASE DEFICIENCY [J].

GOLDBERG, MF ;

COTLIER, E ;

FICHENSCHER, LG ;

KENYON, K ;

ENAT, R ;

BOROWSKY, SA .

ARCHIVES OF INTERNAL MEDICINE, 1971, 128 (03) :387-+

[9] ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM [J].

GONATAS, NK ;

GONATAS, J .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1965, 24 (02) :318-&

[10] HURLERS SYNDROME - DEFICIENCY OF A SPECIFIC BETA GALACTOSIDASE ISOENZYME [J].

HO, MW ;

OBRIEN, JS .

SCIENCE, 1969, 165 (3893) :611-&

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